Nassogne, Marie Cécile

Top Publications

Top Publications Authored or Co-Authored by "Nassogne, Marie Cécile"

• A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

  Proceedings of the National Academy of Sciences of the United States of America, Volume 101, No. 48, Year 2004, Citations 179
• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121
• Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)

  Orphanet Journal of Rare Diseases, Volume 16, No. 1, Article 301, Year 2021, Citations 100
• Clinical characteristics of subependymal giant cell astrocytoma in tuberous sclerosis complex

  Frontiers in Neurology, Volume 10, No. JUL, Article 705, Year 2019, Citations 100
• Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): New findings from the TOSCA TAND research project

  Journal of Neurodevelopmental Disorders, Volume 12, No. 1, Article 24, Year 2020, Citations 100